KAT6A, lysine acetyltransferase 6A, 7994

N. diseases: 129; N. variants: 13
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225396
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 32
MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 		0.700 Biomarker disease GENOMICS_ENGLAND KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants. 30245513 2019
CUI: C4225396
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 32
MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 		0.700 GermlineCausalMutation disease ORPHANET De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay. 25728775 2015
CUI: C4225396
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 32
MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 		0.700 Biomarker disease GENOMICS_ENGLAND De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay. 25728775 2015
CUI: C4225396
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 32
MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 		0.700 Biomarker disease GENOMICS_ENGLAND Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features. 25728777 2015
CUI: C4225396
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 32
MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 		0.700 GermlineCausalMutation disease ORPHANET Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features. 25728777 2015
CUI: C4225396
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 32
MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 		0.700 GeneticVariation disease CLINVAR
CUI: C4225396
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 32
MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 		0.700 CausalMutation disease CLINVAR
CUI: C4225396
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 32
MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 		0.700 Biomarker disease CTD_human
CUI: C4225396
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 32
MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		0.300 Biomarker group CTD_human Sequencing of prostate cancers identifies new cancer genes, routes of progression and drug targets. 29662167 2018
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.300 Biomarker disease CTD_human Sequencing of prostate cancers identifies new cancer genes, routes of progression and drug targets. 29662167 2018
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma 		0.300 Biomarker disease CTD_human The mutational landscape of adenoid cystic carcinoma. 23685749 2013
CUI: C4511003
Disease: Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Acute myeloid leukemia with t(8;16)(p11;p13) translocation 		0.300 FusionGene disease ORPHANET Pediatric acute myeloid leukemia with t(8;16)(p11;p13), a distinct clinical and biological entity: a collaborative study by the International-Berlin-Frankfurt-Munster AML-study group. 23974201 2013
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.300 Biomarker disease CTD_human Multiple recurrent genetic events converge on control of histone lysine methylation in medulloblastoma. 19270706 2009
CUI: C0205833
Disease: Medullomyoblastoma
Medullomyoblastoma 		0.300 Biomarker disease CTD_human Multiple recurrent genetic events converge on control of histone lysine methylation in medulloblastoma. 19270706 2009
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		0.300 Biomarker disease CTD_human Multiple recurrent genetic events converge on control of histone lysine methylation in medulloblastoma. 19270706 2009
CUI: C0278876
Disease: Adult Medulloblastoma
Adult Medulloblastoma 		0.300 Biomarker disease CTD_human Multiple recurrent genetic events converge on control of histone lysine methylation in medulloblastoma. 19270706 2009
CUI: C0751291
Disease: Desmoplastic Medulloblastoma
Desmoplastic Medulloblastoma 		0.300 Biomarker disease CTD_human Multiple recurrent genetic events converge on control of histone lysine methylation in medulloblastoma. 19270706 2009
CUI: C1275668
Disease: Melanotic medulloblastoma
Melanotic medulloblastoma 		0.300 Biomarker disease CTD_human Multiple recurrent genetic events converge on control of histone lysine methylation in medulloblastoma. 19270706 2009
CUI: C4511003
Disease: Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Acute myeloid leukemia with t(8;16)(p11;p13) translocation 		0.300 FusionGene disease ORPHANET Two novel variants of MOZ-CBP fusion transcripts in spontaneously remitted infant leukemia with t(1;16;8)(p13;p13;p11), a new variant of t(8;16)(p11;p13). 18698081 2008
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		0.200 Biomarker disease MGD Here we show that lack of the histone acetyltransferase MOZ (MYST3/KAT6A) phenocopies DiGeorge syndrome, and the MOZ complex occupies the Tbx1 locus, promoting its expression and histone 3 lysine 9 acetylation. 22921202 2012
CUI: C0023904
Disease: Liver Neoplasms, Experimental
Liver Neoplasms, Experimental 		0.200 Biomarker phenotype RGD Histone acetyltransferase MOZ acts as a co-activator of Nrf2-MafK and induces tumour marker gene expression during hepatocarcinogenesis. 17083329 2007
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		0.200 Biomarker disease MGD Monocytic leukemia zinc finger protein is essential for the development of long-term reconstituting hematopoietic stem cells. 16651658 2006
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.130 Biomarker disease BEFREE Pathogenic variants in KAT6A have recently been identified as a cause of syndromic developmental delay. 30245513 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.130 GeneticVariation disease BEFREE A KAT6A variant in a family with autosomal dominantly inherited microcephaly and developmental delay. 29899504 2018